When the scan reveals a high risk of Down Syndrome

This is my account of carrying a pregnancy with a high risk of Down’s syndrome. It is intended to provide as a support for anyone that ever goes through the same. There is no judgment, everyone has individual thoughts and feelings – this is just my story of what we did and how we felt.

The first scan when reaching twelve weeks of pregnancy is an exciting time. You can’t wait to see the little heartbeat and arms and legs moving and see it there alive on the screen. It is an incredible feeling – one that I got with my firstborn son and shall cherish forever.

When I fell pregnant the second time, we were thrilled but very shocked. We had always planned for more children but we had not expected it to happen so soon as Noah was only six months old. At the beginning of this pregnancy I think I was a little preoccupied. I was so sick; I could not keep anything down. (I ended up admitted to hospital on a drip and had lost a stone and half by eleven weeks pregnant) and was diagnosed with Hyperemesis gravidarum. I also had Noah who had just started crawling and all over the place to look after and so I was never really thinking about the baby to be because I had to deal with the here and now.

On reflection I think I took the second pregnancy for granted, assuming that all would be perfectly well. It did not occur to me that things would be very different second time round.

Whilst I was in hospital I had my first scan, and it was at this point I got the thrilling news that it was a twin pregnancy. A feeling that did not last long enough. Looking back I knew instantly the medics were not happy. I had stupidly said to the Sonographer that she had the most amazing job and wasn’t it lovely to give such good news. She replied with ‘sometimes it is.’ My heart sunk. I knew this was not good. She then went on to inform us that the nuchal fold measurement on one of the babies’ neck was thick and segmented and this could mean a variety of conditions:

The Nuchal fold is a collection of fluid under the skin at the back of a baby’s neck. It can be measured using ultrasound when your baby is between 11 weeks and 13 weeks plus six days old. All babies have some fluid, but many babies with Down’s syndrome have an increased amount.

The twins at 12 weeks.

Our world seemed to crash down around us. We were bombarded with facts, figures and options. We got back to my bed on the ward and both burst into tears. We were devastated at the thought that one of our children could already be really poorly. We hated the thought of suffering.
The health care professionals were, indeed, incredible in their support but they had to be ‘matter of fact.’ We were told that sometimes, a screening test could suggest a high risk of having Down’s syndrome when the baby is in fact normal. This is called a false positive. The false positive rate for a Nuchal scan is five per cent. This means that one in 20 women are wrongly given a high risk. This raised our hopes a little.

They told us that combining a Nuchal fold scan with a blood test would give a more accurate result.

Our optimism increased, I was only 27. I had age on my side; surely the results would come back more positive?

We had to wait the longest week of our lives for the test results. Before we left hospital we were told our risk factor was 1 in 50. This was put in perspective when shown in comparison to the other twin who had a risk factor of 1 in 12,000.

The morning of results day, I sat glued to the phone, waiting for it to ring. I waited and waited and I couldn’t wait any longer, I rang the hospital. The midwife immediately knew who I was and said she was about to ring.

Then devastation. I could not pull myself together when I was told that the risk had increased even further to 1 in 10. This was when the reality of the potential risk really started to dawn on us. We had managed to keep ourselves quite together, optimistic and focused up to this point. Emotions hit with a vengeance. I called my husband and he came straight home from work. We were miserable. We did not know what to do. We had one healthy baby and one baby that could be seriously poorly. We felt so torn.

We went in for another scan with the consultant who discussed all our options. It seemed from this scan that they had ruled out the more serious conditions Pateau’s, Edwards and Turner’s, where life expectancy after birth is a matter of day’s, and were veering towards Down’s Syndrome. It seems strange that you then start feeling thankful for that. Obviously as a parent, you don’t wish for your child to have anything that would make their lives painful, or more difficult, but you do start putting conditions in priority order when faced with it. We were told the only way to know for certain if our baby had Down’s or another chromosomal abnormality was to have a diagnostic test called an amniocentesis.

This is when a needle put through the abdomen to the uterus which extract some of the amniotic fluid and can determine is the Down’s syndrome chromosome is present. However it is estimated that about one in 100 women miscarry as a direct result of amniocentesis (RCOG 2005: 2) and this statistic is even more if you are carrying twins. They informed us they would test both twins. The results could then determine whether we continue with the pregnancy and prepare for the outcome or if the results confirmed a condition, consider termination options. This meant either terminating both twins at 16 weeks or carrying them both till 34 week and terminating the one affected twin at this point. It was highlighted that this baby would then be stillborn.

My husband and I discussed in tearful length whether we could cope with the possibility of a disabled child. We knew things could be incredibly difficult having an older child and two newborn babies alone, without the difficulties of disability added to that. Despite this we still believed that we could cope. We therefore decided not to have the amniocentesis because we had made the decision to keep the baby regardless of the outcome. This decision was also made due to the fact that I was carrying another baby and we felt it was then not necessary to add miscarriage risk to both. This did however make the pregnancy considerably harder as we were unable to prepare for the outcome. There was constant worry at the back of both our minds as to what was to come. To this day it has been the biggest decision of out lives.

Now the decision stage is purely personal choice, made between you and your partner and no judgment can me made in any given situation, as there are too many extenuating circumstances. Our choice was one that worked for us and we are quite a unique case with it being a twin pregnancy as well. Had it been a single pregnancy I could not say hand on heart what our decisions what have been. I think I may have had the amniocentesis so we could have prepared if the outcome had of been Down’s syndrome.

We were so lucky with the family and friend support that we had, all of which made no judgment or gave any opinion to influence our decision and us.

I gave birth to the twins at 36 weeks (after they had to stop their early arrival at 34 weeks) and my first thought was ‘were they breathing?’ The question of Down’s syndrome did not even come into my head. It was not until half an hour later that my husband said ‘You know they are both fine and healthy’ and I said ‘Yes perfect’ and he said ‘No Kerry, neither has Down’s Syndrome. We cried again! With happiness this time. The babies did not even need to go to special care, which is common practice for twins. We felt so blessed.

On reflection, when you think of my odds of 1 in 10, you would think that that 90% chance of no condition was fairly good. It has been found that, most women given a high risk (one in 150 or less) will go on to have a baby without Down’s syndrome. Nevertheless, once your pregnancy has been labeled high-risk it is understandable of the anxieties you will be feeling.

The twins are both now 2 years and 4 month and perfectly fit and well!

Thank you. When I was going through it, I trawled the internet to find help and there wasn’t any, so if the post provides some comfort to anyone going through the same I will be pleased.Multiple Mummy recently posted…How to make and Easter Garden

What a great story. That is great that everything worked out well for you and your family. My wife and were facing similar decisions throughout the pregnancy , although our odds are much different 1-12,000, it is still nerve racking. We are expecting any day now, and it’s really starting to hit home.

My blood test results just came back with a 1 in 10 chance of downs as well. However, after reading your heartfelt post about your courage when faced with fear and uncertainty, it comforts me to no end to learn that both your little ones are perfectly healthy. Thank you for sharing your story. I’m 42, 16.5 weeks pregnant and have an amnio scheduled for tomorrow. *fingers and toes crossed*

I am going through the exact same. I am having twins and told one is 1 in 35% chance in down syndrome from the first testing. As well my husband and I decided not to take any chances with the amnio test. I am getting the 2 ultrasound and the heart ultrasound. I was wondering if you recieved them and what were the results of them.

Just want to say reading this has made me feel a lot better! I’m 13 weeks pregnant with my first baby I’m also only 27 and have just been told my risk gas come back as high risk. 1 in 70, I found out 3 days ago and have not stopped crying since, I also have type 1 diabetes which has risks in its self and keep askin myself I don’t know if we could cope with my condition and also a baby with downs syndrome. Reading this has made me feel a little better, we still haven’t decided what we are going to do yet , fingers crossed it will all work ou ok.

I wanted to thank you so much for your story. I am in a very similar boat, and having a lot of trouble finding info on the internet to make me feel any better.
Though my odds for Baby B are better than yours were (1/300), there is a significant difference between that and Baby A (1/1100). I was told that when they see the variance in the Nuchal Translucency (fluid behind the neck) in twins, that sometimes there is a defect in the higher-risk twin (be it Down’s, heart defect etc.). I am now terrified, and cannot find any comforting info online. I know 1/300 are very good odds, I just was hoping for perfectly healthy babies, as it will already be a huge challenge to have 2, plus my wonderful little boy who will be 3 when the twins are born.
If anyone has any words of advice on this, or comforting thoughts, I could really use them. Please email me (mosleyan@yahoo.com). Many thanks again for your story, it had me crying at my desk.

I am happy for you and I think that all parents should realize that no matter what, that is the child they created and he or she deserves a chance. I feel when you choose to have a baby you give up your right whether to keep it or not. Doctors can be wrong and if they are wrong the ones that terminate will never know that child. I also await an outcome. I was told there is a 99% chance my son will have it. But he is our son no matter what.

Amen on your story, I cried reading it because I have fears just like you and your husband had fears and I am 28 and am pregnant with my first child and they told me that my chances were 1 in 316 and my doctor told me, if your gonna terminate the pregnancy based on the results lets do the optional test, but if not, don’t test further. I have decided to not test further, thank you for your story, I trust in God .

I’m so glad that you wrote this. I was in the doctors office today and she informed me about the nuchal fold. Have another ultrasound scheduled for June 18th and I’m so nervous about it. I have no idea what my ratio is, I have to do blood test. She told me the same thing, one of those four syndroms could be. Ono top of that, I have high risk pregnancy because of the Deep Vein Tromose. When I find out about this today, I was just heart broken. I’m praying for the best, but will see. I’m very sad at the moment.

thank you so much for sharing your story. iv sat here and cried throughout infact cried all day as im going through the same thing. It amazing the high and low feeling you can get when you get told your having twins and then being told one is not quite right. You are left not knowing what to do and asking why?
i have choose to go for all the tests today and now the waiting begins. Felt really alone and wanted to find who else had went through these feeling which iv never had before. Just asked myself why me over and over. Glad iv read your story and i know it doesnt happen to everyone but if hope is all i have then il take that.

Interesting story. We had a similar experience except I was 36 when I got pregnant and 37 by the time of the nuchal test. Our risk for Down’s was 1 in 57 so we went through the same agonizing conversations, ultimately deciding that given our age this was likely to be our only pregnancy so taking the risks for amnio was not going to be worth it. We could not agree on whether we could handle a Down’s baby or not, but more than that we were less happy about the idea of no baby/babies at all. I was also pregnant with boy/girl twins. Though we only got 1 result, not a result for each twin. I believe there was an increased thickness around the boy so they seemed to be the most concerned about him. We decided against amnio. They did an echocardiogram to make sure their hearts were ok because if not, it would be best for us to deliver at a different hospital that would have pediatric cardiologists available. Our daughter was usually active in the womb, but our son didn’t move much. However, this test turned out fine and no issues with their hearts. Their heartbeats were similar and their growth was fine. We made it to 36w5d (almost term at 37 weeks!) and both twins were fine. Our son was diagnosed with high-functioning autism just before age 3 though his eye contact was poor since he was a newborn but has improved since. We love both children, and are happy with our decision not to do amnio and take unnecessary risks for a baby we weren’t sure we’d abort anyway. So we had our daughter vaginally but then the placentas ruptured and our son wouldn’t turn (he was transverse) so we had to have an emergency c-section for him and general anesthesia for me. When I came to hours later, they asked me if I wanted to see my son. I felt bad because my first response was “Does he have Down’s?” because I just wanted an answer to the question that had lingered in our minds throughout pregnancy. And no. He was fine. He is autistic but high-functioning with sensory issues, but we are grateful.

I enjoyed your story! I’m expecting and am 4 months along! I just found out that my baby is also 1:10. I was only sad for about 2 hours and since then, I realized that no matter what I’ll love this baby. I also chose to not get the amnio test. God gave me this baby for a reason with our without down’s syndrome. And he or she will be loved like crazy!!! 🙂 And again, I enjoyed reading your story..thank you for sharing.

Thank you for your heart felt story I cried the whole way thru . I’m 42 pregnant twins and waiting on screening results which shows one is high risk. Haven’t stopped crying all day. Your story has touched my heart and we will take that risk no matter what. Baby deserves the right to a life no matter what abnormalities. And will be loved the same you have inspired me thank you so very much .

Thank you for sharing your story. I am 35 years old and 12 weeks pregnant with my second child. I have a 12 year old as well. My test came back 1 in 55 chance and immediately scared me. We’ve been trying for 10 years to have another child and were told it was unlikely to happen. So of course after the excitement of FINALLY being pregnant again and then having weird test results it has really thrown me for a loop. Your story really helped put me at ease. I mean I still know there is a slim chance but it doesn’t seem quite as scary. Either way I already love this little munchkin. Thank you again for your story… I’m sure you’re relieving a lot of women’s anxiety.

I”m so happy you choose to continue the pregnancy. However I would like to add children with Down Syndrome don’t suffer. It is actually the total opposite. My son is 16 months old. He too is fine and health? Very odd wording in this. I feel you didn’t educate yourself enough while you were pregnant on what Down Syndrome is. I”m actually kinda sorry this was taken from you.

Thanks for sharing your story! Just one question after reading this passage:

“They informed us they would test both twins. The results could then determine whether we continue with the pregnancy and prepare for the outcome or if the results confirmed a condition, consider termination options. This meant either terminating both twins at 16 weeks or carrying them both till 34 week and terminating the one affected twin at this point.”

Are you allowed to terminate at 34 weeks? I’ve never heard of a country where a termination is allowed so late in a pregnancy? Or am I misunderstanding something in this post?

Thank you for your post. It is helping me as i am currently going through the same experience… I can’t stop crying as I feel devastated. My husband has been such an amazing and supportive. I don’t know why I can’t stop crying..This is helping me understand that there is hope.

I am 28 weeks today and was given a positive screening and positive amnio result for Down’s Syndrome. I will be 39 years old on Saturday. I never imagined this would be happening and have gone through every emotion since we were told of the first positive screening at around 9 weeks. I was told today that I have too much amniotic fluid and that is also associated with abnormalities like Down’s. Thank you for sharing your story. I have struggled with decisions I have made so far, such as my decision to have the amnio. I ended up having complications and leaking amniotic fluid. Thankfully, the bag repaired itself after a few days and I was able to continue the pregnancy. There could have been a very different outcome and I don’t know if I would have ever forgiven myself. After all the tests, I still don’t know really what to expect, so I wish I would have never done them. All I can do now is try to stick to what’s necessary and hope he has no other health issues. I’ll be meeting my handsome baby boy on or before 01/24/18 🙂